Research Topics
Genomes and GenesSpecies | Robert PlengeSummaryAffiliation: Massachusetts General Hospital Country: USA Publications
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Publications
Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis dataChristopher I Amos
Departments of Epidemiology and Biomathematics, University of Texas, MD Anderson Cancer Center, 1155 Pressler Street, Houston, Texas 77030, USA
BMC Proc 3:S2. 2009..Several questions could be addressed using the data, including analysis of genetic associations using single SNPs or haplotypes, as well as gene-gene and genetic analysis of SNPs for qualitative and quantitative factors...- Data for Genetic Analysis Workshop (GAW) 15 Problem 2, genetic causes of rheumatoid arthritis and associated traitsChristopher I Amos
Departments of Epidemiology and Biomathematics, University of Texas, Anderson Cancer Center, 1155 Pressler Street, Unit 1340, Houston, Texas 77030, USA
BMC Proc 1:S3. 2007.... - Rheumatoid arthritis genetics: 2009 updateRobert M Plenge
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Suite 168, Boston, MA 02115, USA
Curr Rheumatol Rep 11:351-6. 2009..This review discusses recent RA genetic discoveries in terms of their potential to improve patient care... - Leveraging human genetics to develop future therapeutic strategies in rheumatoid arthritisRobert M Plenge
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Harvard Medical School, 77 Avenue Louis Pasteur, Suite 168, Boston, MA 02115, USA
Rheum Dis Clin North Am 36:259-70. 2010.... - Recent progress in rheumatoid arthritis genetics: one step towards improved patient careRobert M Plenge
Division of Rheumatology, Immunology and Allergy, Brigham and Women s, Hospital, Harvard Medical School, Boston, USA
Curr Opin Rheumatol 21:262-71. 2009..Recent human genetic discoveries have increased our understanding of rheumatoid arthritis (RA) susceptibility. These discoveries are reviewed and placed in the context of potential important clinical applications... - GWASs and the age of human as the model organism for autoimmune genetic researchRobert Plenge
Brigham and Women s Hospital, Division of Rheumatology, Immunology and Allergy, Boston, MA 02115, USA
Genome Biol 11:212. 2010..Genetic studies have identified more than 150 autoimmune loci, and next-generation sequencing will identify more. Is it time to make human the model organism for autoimmune research?.. - Two independent alleles at 6q23 associated with risk of rheumatoid arthritisRobert M Plenge
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
Nat Genet 39:1477-82. 2007..We show that these two SNP associations are statistically independent, are each reproducible in the comparison of our data and WTCCC data, and define risk and protective haplotypes for rheumatoid arthritis at 6q23... - Rare protection against type 1 diabetesRobert M Plenge
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Boston, MA 02115, USA
Genome Biol 10:219. 2009..A large population study using ultra-high-throughput DNA sequencing to re-sequence a genetic locus associated with type 1 diabetes reveals rare protective alleles... - Common variants at CD40 and other loci confer risk of rheumatoid arthritisSoumya Raychaudhuri
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
Nat Genet 40:1216-23. 2008..1 x 10(-7) overall), CDK6 (rs42041, P = 0.010 replication, P = 4.0 x 10(-6) overall), PRKCQ (rs4750316, P = 0.0078 replication, P = 4.4 x 10(-6) overall), and KIF5A-PIP4K2C (rs1678542, P = 0.0026 replication, P = 8.8 x 10(-8) overall)... - TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide studyRobert M Plenge
Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, MA, USA
N Engl J Med 357:1199-209. 2007..We carried out a genomewide association analysis to identify additional genetic loci associated with an increased risk of rheumatoid arthritis... - Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4Robert M Plenge
Broad Institute of MIT and Harvard, Cambridge, MA, USA
Am J Hum Genet 77:1044-60. 2005.... - Principal components analysis corrects for stratification in genome-wide association studiesAlkes L Price
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
Nat Genet 38:904-9. 2006..Our simple, efficient approach can easily be applied to disease studies with hundreds of thousands of markers... - Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsetsXinli Hu
Division of Genetics, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
Am J Hum Genet 89:496-506. 2011..Our approach has application in other phenotypes, outside of autoimmunity, where many loci have been discovered and high-quality cell-type-specific gene expression is available... - Genetic variants at CD28, PRDM1 and CD2/CD58 are associated with rheumatoid arthritis riskSoumya Raychaudhuri
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 41:1313-8. 2009..0008 replication, P = 4 x 10(-6) overall) and FCGR2A (rs12746613, P = 0.0022 replication, P = 2 x 10(-5) overall). Many of these loci are also associated to other immunologic diseases... - Using genetic and clinical data to understand response to disease-modifying anti-rheumatic drug therapy: data from the Brigham and Women's Hospital Rheumatoid Arthritis Sequential StudyChristine K Iannaccone
Department of Medicine, Brigham and Women s Hospital, PBB B3, 75 Francis Street, Boston, MA 02115, USA
Rheumatology (Oxford) 50:40-6. 2011.... - Specific association of type 1 diabetes mellitus with anti-cyclic citrullinated peptide-positive rheumatoid arthritisKatherine P Liao
Division of Rheumatology, Immunology, and Allergy, Brigham and Women s Hospital, Boston, MA 02114, USA
Arthritis Rheum 60:653-60. 2009..In this study, the strength and nature of this association were investigated at the population level in a Swedish case-control cohort... - Genome-wide association study of determinants of anti-cyclic citrullinated peptide antibody titer in adults with rheumatoid arthritisJing Cui
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02115, USA
Mol Med 15:136-43. 2009..We identified a SNP in moderate linkage disequilibrium (LD) with HLA-DR3, which may influence anti-CCP titer independently of the HLA-SE... - The PRL -1149 G/T polymorphism and rheumatoid arthritis susceptibilityYvonne C Lee
Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Arthritis Rheum 60:1250-4. 2009..The aim of this study was to determine the role of the PRL -1149 G/T polymorphism (rs1341239) in rheumatoid arthritis (RA) susceptibility... - Cumulative association of 22 genetic variants with seropositive rheumatoid arthritis riskElizabeth W Karlson
75 Francis Street, Boston, MA 02115, USA
Ann Rheum Dis 69:1077-85. 2010..This study examined whether a cumulative score based on 22 validated genetic risk alleles for seropositive RA would identify high-risk, asymptomatic individuals who might benefit from preventive interventions... - Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in rheumatoid arthritisChunyu Liu
Biogen Idec Inc, Cambridge, Massachusetts, USA
Mol Med 14:575-81. 2008..Replications of these results in independent and larger data sets clearly are required. We provide a reference list of candidate SNPs (P < 0.01) that can be investigated in future pharmacogenomic studies... - Genetic polymorphisms in PTPN22, PADI-4, and CTLA-4 and risk for rheumatoid arthritis in two longitudinal cohort studies: evidence of gene-environment interactions with heavy cigarette smokingKaren H Costenbader
Division of Rheumatology, Immunology, and Allergy, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA
Arthritis Res Ther 10:R52. 2008..We investigated whether polymorphisms in these genes were associated with RA in Caucasian women included in two large prospective cohorts, adjusting for confounding factors and testing for interactions with smoking... - A broad analysis of IL1 polymorphism and rheumatoid arthritisAlyssa K Johnsen
Joslin Diabetes Center, Harvard Medical School, Boston, Massachusetts, USA
Arthritis Rheum 58:1947-57. 2008..The aim of this study was to perform a broad and well-powered search for association between allelic polymorphism in IL1A and IL1B and the susceptibility to or severity of RA... - Rheumatoid arthritis risk allele PTPRC is also associated with response to anti-tumor necrosis factor alpha therapyJing Cui
Brigham and Women s Hospital, Boston, Massachusetts 02115, USA
Arthritis Rheum 62:1849-61. 2010..The aim of the present study was to test established RA genetic risk factors to determine whether the same alleles also influence the response to anti-TNF therapy... - Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lociEli A Stahl
Division of Rheumatology, Immunology and Allergy, Brigham and Women s Hospital, Boston, Massachusetts, USA
Nat Genet 42:508-14. 2010..An additional 11 SNPs replicated at P < 0.05, many of which are validated autoimmune risk alleles, suggesting that most represent genuine rheumatoid arthritis risk alleles... - Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosusRobert R Graham
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA
Nat Genet 40:1059-61. 2008..These results establish that variants near TNFAIP3 contribute to differential risk of SLE and RA... - Genetic variants that predict response to anti-tumor necrosis factor therapy in rheumatoid arthritis: current challenges and future directionsRobert M Plenge
Division of Rheumatology, Immunology and Allergy, Harvard Medical School, Brigham and Women s Hospital, Boston, MA, USA
Curr Opin Rheumatol 20:145-52. 2008..Here we review genetic association studies conducted to search for DNA biomarkers of response to anti-TNF therapy... - A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosusRobert R Graham
Program in Medical and Population Genetics, Broad Institute of Harvard and the Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA
Nat Genet 38:550-5. 2006..Thus, a common IRF5 haplotype driving elevated expression of multiple unique isoforms of IRF5 is an important genetic risk factor for SLE, establishing a causal role for type I IFN pathway genes in human autoimmunity... - Identifying susceptibility genes for immunological disorders: patterns, power, and proofRobert Plenge
Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, MA, USA
Immunol Rev 210:40-51. 2006..Recent developments in the fields of human genetics and genomics are overcoming limitations within the field, and we anticipate many exciting discoveries in the near future... - Electronic medical records for discovery research in rheumatoid arthritisKatherine P Liao
Brigham and Women s Hospital, Boston, Massachusetts, USA
Arthritis Care Res (Hoboken) 62:1120-7. 2010..We assessed whether a classification algorithm incorporating narrative EMR data (typed physician notes) more accurately classifies subjects with rheumatoid arthritis (RA) compared with an algorithm using codified EMR data alone... - The major genetic determinants of HIV-1 control affect HLA class I peptide presentationFlorencia Pereyra
Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology MIT and Harvard, Boston, MA, USA
Science 330:1551-7. 2010..These results implicate the nature of the HLA-viral peptide interaction as the major factor modulating durable control of HIV infection... - Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletionsSoumya Raychaudhuri
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, United States of America
PLoS Genet 5:e1000534. 2009..An online version of this method is available for public use (http://www.broad.mit.edu/mpg/grail/)... - De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of FallotSteven C Greenway
Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA
Nat Genet 41:931-5. 2009..Our findings predict that at least 10% (4.5-15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF... - Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupusRobert R Graham
Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA 02142, USA
Proc Natl Acad Sci U S A 104:6758-63. 2007.... - Xenotropic murine leukemia virus-related virus prevalence in patients with chronic fatigue syndrome or chronic immunomodulatory conditionsTimothy J Henrich
Division of Infectious Diseases, Brigham and Women s Hospital, Boston, Massachusetts, USA
J Infect Dis 202:1478-81. 2010..XMRV DNA was not detected in any participant samples. We found no association between XMRV and patients with chronic fatigue syndrome or chronic immunomodulatory conditions... - Evaluating potential for whole-genome studies in Kosrae, an isolated population in MicronesiaPenelope E Bonnen
Rockefeller University, 1230 York Avenue, New York, New York 10021, USA
Nat Genet 38:214-7. 2006..The long-range LD around common alleles and limited diversity result in improved efficiency in genetic studies in this population and augments the power to detect association of 'hidden SNPs'... - Defining the role of the MHC in autoimmunity: a review and pooled analysisMichelle M A Fernando
Section of Molecular Genetics and Rheumatology, Faculty of Medicine, Imperial College London, London, United Kingdom
PLoS Genet 4:e1000024. 2008..Furthermore, we find a number of interesting commonalities and differences across diseases that implicate both general and disease-specific pathogenetic mechanisms in autoimmunity... - Several regions in the major histocompatibility complex confer risk for anti-CCP-antibody positive rheumatoid arthritis, independent of the DRB1 locusHye Soon Lee
The Feinstein Institute for Medical Research, North Shore LIJ Health System, Manhasset, New York 11030, United States of America
Mol Med 14:293-300. 2008..These data emphasize that further analysis of the MHC is likely to reveal genetic risk factors for rheumatoid arthritis that are independent of the DRB1 shared epitope alleles... - Gene-gene and gene-environment interactions involving HLA-DRB1, PTPN22, and smoking in two subsets of rheumatoid arthritisHenrik Kallberg
Institute for Environmental Medicine, Karolinska Institutet, Stockholm, Sweden
Am J Hum Genet 80:867-75. 2007..The data extend the basis for a pathogenetic hypothesis for RA involving genetic and environmental factors. The study also raises and illustrates principal questions concerning ways to define interactions in complex diseases... - Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosusKimberly E Taylor
Rosalind Russell Medical Research Center for Arthritis, University of California San Francisco, California, USA
PLoS Genet 4:e1000084. 2008..We conclude that this common polymorphism of STAT4 contributes to the phenotypic heterogeneity of SLE, predisposing specifically to more severe disease... - STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosusElaine F Remmers
National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA
N Engl J Med 357:977-86. 2007..Rheumatoid arthritis is a chronic inflammatory disease with a substantial genetic component. Susceptibility to disease has been linked with a region on chromosome 2q... - Analysis and application of European genetic substructure using 300 K SNP informationChao Tian
Rowe Program in Human Genetics, University of California Davis, Davis, California, United States of America
PLoS Genet 4:e4. 2008..The results provide further insight into European population genetic substructure and show that this information can be used for improving error rates in association testing of candidate genes and in replication studies of WGA scans... - A novel polymorphism of the human CD40 receptor with enhanced functionAnna L Peters
Medical Scientist Training Program, University of Iowa, Iowa City, IA 52242, USA
Blood 112:1863-71. 2008..We have thus identified a novel genetic variant of hCD40 with a gain-of-function immune phenotype... - An N-ethyl-N-nitrosourea mutagenesis screen for epigenetic mutations in the mouseIvona Percec
Howard Hughes Medical Institute, and Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, 415 Curie Boulevard, Philadelphia, PA 19104, USA
Genetics 164:1481-94. 2003.... - Skewed X-chromosome inactivation is a common feature of X-linked mental retardation disordersRobert M Plenge
Department of Genetics, Case Western Reserve University School of Medicine, and Center for Human Genetics and Research Institute, University Hospitals of Cleveland, OH 44106, USA
Am J Hum Genet 71:168-73. 2002.... - Autosomal dominant mutations affecting X inactivation choice in the mouseIvona Percec
Howard Hughes Medical Institute and Department of Cell and Developmental Biology, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA
Science 296:1136-9. 2002..We have used chemical mutagenesis in the mouse to identify specific factors involved in X inactivation and report two genetically distinct autosomal mutations with dominant effects on X chromosome choice early in embryogenesis...
Research Grants
- Mapping HIV/AIDS genes with haplotype-based strategiesRobert Plenge; Fiscal Year: 2007..These studies hope to identify novel genes that influence susceptibility to HIV/AIDS, thereby providing insight into HIV/AIDS pathogenesis and, ultimately, improving patient care. ..
- Meta-analysis of GWAS data to identify novel rheumatoid arthritis risk lociRobert M Plenge; Fiscal Year: 2010..In addition, genetics should provide insight into important steps of the disease pathway, allowing for the development of new therapies that target these pathways in at-risk individuals. ..
- Dissection of two rheumatoid arthritis risk loci from genome-wide studiesRobert Plenge; Fiscal Year: 2009..In addition, genetics should provide insight into important steps of the disease pathway, allowing for the development of new therapies that target these pathways in at-risk individuals. ..
- Meta-analysis of GWAS data to identify novel rheumatoid arthritis risk lociRobert Plenge; Fiscal Year: 2009..In addition, genetics should provide insight into important steps of the disease pathway, allowing for the development of new therapies that target these pathways in at-risk individuals. ..
- Dissection of two rheumatoid arthritis risk loci from genome-wide studiesRobert M Plenge; Fiscal Year: 2010..In addition, genetics should provide insight into important steps of the disease pathway, allowing for the development of new therapies that target these pathways in at-risk individuals. ..
- Deep Re-Sequencing of Rheumatoid Arthritis Risk LociRobert M Plenge; Fiscal Year: 2010..In addition, genetics should provide insight into important steps of the disease pathway, allowing for the development of new therapies that target these pathways in at-risk individuals. ..